MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45
General Information (adopted from Orphanet):
Synonyms, Signs: |
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Number of Symptoms | 6 |
OrphanetNr: | |
OMIM Id: |
615979
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ICD-10: |
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UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
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Age of onset: |
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Disease classification (adopted from Orphanet):
Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0000336) | Prominent supraorbital ridges | 45 / 7739 | ||||
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(HPO:0000280) | Coarse facial features | 189 / 7739 | ||||
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(HPO:0000574) | Thick eyebrow | 96 / 7739 | ||||
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(HPO:0000490) | Deeply set eye | 131 / 7739 | ||||
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(HPO:0000431) | Wide nasal bridge | 290 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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